Dataset Information

AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.

ABSTRACT: Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and sudden unexpected death. However, AKAP9 sequence variations were rarely reported and AKAP9 was classified as a "disputed evidence" gene to support disease causation due to the insufficient genetic evidence and a limited number of reported AKAP9-mutated patients. Here, we describe a 47-year-old male carrying a novel frameshift AKAP9 pathogenic variant who presented recurrent syncopal attacks and sudden cardiac arrest that required a semi-automatic external defibrillator implant and an electric shock treatment of ventricular arrhythmia. This study provides insight into the mechanism underlying cardiac arrest and confirms that AKAP9 loss-of-function variants predispose to serious, life-threatening ventricular arrhythmias.

SUBMITTER: Huynh MT

PROVIDER: S-EPMC9690169 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.

Huynh Minh-Tuan MT Proust Alexis A Bouligand Jérôme J Popescu Elena E

Genes 20221120 11

Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and sudden unexpected death. However, AKAP9 sequence variations were rarely reported and AKAP9 was classified as a "disputed evidence" gene to support disease causation due to the ins ...[more]

PMID: 36421840

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Dataset Information

AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.

Publications

<i>AKAP9</i>-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature.

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